Brachydactyly type D

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Brachydactyly type D
Other namesClubbed thumb,[1] club thumb,[2] short thumb,[3][1] potter's thumb,[1] royal thumb, murderer's thumb,[1] toe thumb,[4] hammer thumb, stubbed thumb,[5] stub thumb[6][7]
Brachydaktylie Typ D einseitig.jpg
Unilateral brachydactyly type D in a 15-year-old female
SpecialtyMedical genetics

Brachydactyly type D, also known as short thumb[3][1] or stub thumb[6][7] and commonly referred to as clubbed thumb or toe thumb,[8][9][10] is a condition clinically recognised by a thumb being relatively short and round with an accompanying wide nail bed as the distal phalanx of affected thumbs is approximately two-thirds of full-length thumbs. It is a type of brachydactyly, or shortness of digits, and is associated with the HOXD13 gene.

Physiology[edit]

Brachydactyly type D is a skeletal condition allegedly caused by a 'partial fusion or premature closing of the epiphysis with the distal phalanx of the thumb', according to Goodman et alia (1965).[7] J.K. Breithenbecher (1923) found that distal phalanges of stub thumbs were one-half the length of full-length thumbs, while R.M. Stecher (1957) claimed that it be approximately two-thirds. The condition may either be unilateral (affecting one thumb) or bilateral (affecting both).[7]

Genetics[edit]

A genetic trait, brachydactyly type D exhibits autosomal dominance and is commonly developed or inherited independently of other hereditary traits. The condition is associated with the HOXD13 gene, which is central in digital formation and growth.[6]

Epidemiology[edit]

A 1965 scientific study in Israel found that 3.05% of Israeli Arabs had one or two stub thumbs, compared with 1.57% among Ashkenazi as well as non-Ashkenazi Jews.[7] However, as the survey's Arab test persons were mainly recruited from a handful of large and closely related clans living in a particular village, said percentage should be 'considered with some reservation', according to Goodman et alia (1965). Stub thumbs are also relatively common in Japan.[citation needed]

Notable Examples[edit]

Notable individuals who may or may not have Brachydactyly type D include Megan Fox and Jannah the Haem PA at Guy's en Lisanne

Terminology[edit]

The condition is known under numerous names. The most commonly used name is clubbed thumb, or club thumb.[8][9] American researcher R.A. Hefner used the terms "short thumb" and "brachymegalodactylism" in 1924,[3] and "short thumb" has continued to be used in a few other studies since then, including the study which defined Rubinstein–Taybi syndrome in 1963.[1] "Stub thumb" is the common term preferred by the online database Online Mendelian Inheritance in Man[6] and was first used in a 1965 study.[7] Stub thumbs have also been called murderer's thumb (allegedly among fortune tellers),[7] bohemian thumb, Tory's Thumb and potter's thumb.[6]

The common term "clubbed thumb" should not be confused with nail clubbing, which is a clinical sign associated with a number of diseases.

References[edit]

  1. ^ a b c d e f Rubinstein, Jack H. (1963-06-01). "Broad Thumbs and Toes and Facial Abnormalities: A Possible Mental Retardation Syndrome". American Journal of Diseases of Children. 105 (6): 588. doi:10.1001/archpedi.1963.02080040590010. ISSN 0002-922X. PMID 13983033.
  2. ^ Macklin, Madge T. (December 1960). "Inheritance of Glioma: The Genetic Aspects of Cerebral Glioma and Its Relation to Status Dysraphicus". American Journal of Human Genetics. 12 (4 Pt 1): 448–449. ISSN 0002-9297. PMC 1932168.
  3. ^ a b c Hefner, R. A. (1924-10-01). "INHERITED ABNORMALITIES OF THE FINGERSII. Short Thumbs (Brachymegalodactylism)". Journal of Heredity. 15 (10): 433–439. doi:10.1093/oxfordjournals.jhered.a102395. ISSN 0022-1503.
  4. ^ Shannon-Karasik, Caroline (2018-12-05). "Apparently Megan Fox Has 'Toe Thumbs'—Do You?". Women's Health. Retrieved 2019-08-17.
  5. ^ Learman, Yaffa; Katznelson, Mariassa Bat-Miriam; Bonné‐Tamir, BatSheva; Engel, Joel; Hertz, Marjorie; Goodman, Richard M.; Opitz, John M. (1981). "Symphalangism with multiple anomalies of the hands and feet: A new genetic trait". American Journal of Medical Genetics. 10 (3): 245–55. doi:10.1002/ajmg.1320100308. ISSN 1096-8628. PMID 6272576.
  6. ^ a b c d e "OMIM Entry - # 113200 - BRACHYDACTYLY, TYPE D; BDD". omim.org. Retrieved 2019-08-17.
  7. ^ a b c d e f g GOODMAN RM; ADAM A; SHEBA C (1965). "A Genetic Study of Stub Thumbs Among Various Ethnic Groups in Israel". Journal of Medical Genetics. 2 (2): 116–21. doi:10.1136/jmg.2.2.116. PMC 1012845. PMID 14295653.
  8. ^ a b "Google Ngram Viewer". books.google.com. Retrieved 2019-08-17.
  9. ^ a b "Google Trends". Google Trends. Retrieved 2019-08-17.
  10. ^ Robinson, Syd. "19 Things You'll Only Understand If You Have Clubbed Thumbs". BuzzFeed. Retrieved 2019-08-17.